The SCD network diagnosed causes in 75% of 97 young cases; family screening identified 8 affected relatives and 3 healthy carriers, enabling preventive interventions.
A regional multidisciplinary network for sudden cardiac death in the young effectively identified causes of death and successfully detected at-risk relatives through systematic family screening.
Abstract Background Sudden cardiac death (SCD) is an understudied phenomenon associated with enormous emotional burden for the relatives as well as a significant economic impact for the community. 1,2 Especially in the young, SCD is not rarely due to hereditary diseases so family members might be at risks. 2,3 In 2018, the multidisciplinary network for the study of SCD in the Emilia-Romagna region (Italy) was established, providing a well-structured pathway for the collection and study of SCD cases. 4 Main objectives of the network are to define the incidence and causes of SCD and to track relatives of the victim implementing preventive measures. Purpose The study aim was to describe the results of the first 5 years of activity. Methods All intercepted cases of SCD in individuals aged 1 to 55 years were included. Autopsies were executed in all cases, with hearts sent to our referral center for the specialized examination in case of negative result of the general autopsy. Genetic and toxicological tests were employed based on death circumstances and pathology findings. The cause of death was determined through integration of the various data collected, including results of the family screening and past medical data where available. For hereditary diseases or unexplained deaths, screening of relatives was systematically offered. Results During the first five years of network activity 97 cases of SCD were included (mean age 38 ± 12.5 years, 75% male). The most frequently identified causes of death were coronary artery disease (CAD, 21 cases, 21.6%), cardiomyopathies (16 cases, 16.5%), myocarditis (11 cases, 11.3%), drug intoxication (7 cases, 7.2%), coronary anomalies (3 cases, 3%) and channelopathies (3 cases, 3%). In 24 cases (24.7%), neither autopsy nor subsequent genetic and toxicology detected any possible cause of death, a scenario where a ventricular arrhythmia in a structurally normal heart was the most likely cause. A genetic test was performed in 62 cases overall (63.9%) and a pathogenic or likely pathogenic (P/LP) mutation was identified in 11 (17.7%). Family screening led to the evaluation of 63 relatives from 19 families. Eight relatives (12.5%) were found to be phenotypically affected by the same disease of probands, while 3 relatives (4.7%) where identified as healthy carrier of a P/LP mutation. A defibrillator was implanted in 3 subjects (4.7%) for the primary prevention of SCD. Conclusion The network for the study of SCD in the Emilia-Romagna region collected 97 cases in the first 5 years of activity (incidence of approximately 0.7/100’000 per year). The most frequent diagnosis was a supposed ventricular arrhythmia in a structurally normal heart, followed by CAD, cardiomyopathies, and myocarditis. Sixty-three relatives were evaluated and 8 were found to be affected, while 3 were healthy carrier of P/LP mutations, for a total of at least 11 subjects exposed to preventive measures, representing potentially saved lives.Causes of death: pathology vs integrated Arrhythmogenic cardiomyopathy (ACM)
Bergami et al. (2025) studied this question. The SCD network diagnosed causes in 75% of 97 young cases; family screening identified 8 affected relatives and 3 healthy carriers, enabling preventive interventions.